Genetic DiseasePhase 1/2ASOTUBB4ANCT07222371
An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy
A Phase 1/2 study testing nL-TUBB4-001 in people with Genetic Disease and TUBB4A-Related Leukodystrophy, run by University of California, San Diego at 1 site in United States.
Trial summary
This current study is aimed for the treatment of an individual participant with a form of TUBB4A-related leukodystrophy with hypomyelination. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Genetic Disease, TUBB4A-Related Leukodystrophy
- What is being tested?
- nL-TUBB4-001
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 19 Sep 2025to Sep 2027
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s).
- Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
- Clinical phenotype and neuroimaging consistent with a diagnosis of TUBB4A-related leukodystrophy
- Documented genetic mutation in TUBB4A
Who cannot join
- Participant has any known contraindication to or unwillingness to undergo lumbar puncture
- Use of investigational medication within 5 half-lives of the drug at enrollment
- Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
Trial locations and contacts
1 site in 1 country.
United States1 site
Rady Children's Hospital San Diego
San Diego, California, 92123
About this study
This current study is aimed for the treatment of an individual participant with a form of TUBB4A-related leukodystrophy with hypomyelination.
Read the detailed description
The study is an investigational interventional drug created for the study subject's specific pathogenic genetic mutation.
- Conditions
- Genetic Disease, TUBB4A-Related Leukodystrophy
- Being tested
- nL-TUBB4-001
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
nL-TUBB4-001Drug
Personalized antisense oligonucleotide
| Study group | Role | What they receive |
|---|---|---|
| Open label | Experimental | Not described Receives: Drug: nL-TUBB4-001 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Dystonia and gross motor function as measured by Barry Albright Dystonia Scale (BAD)
The Barry Albright Dystonia Scale (BAD) is a clinical tool designed to evaluate the severity of dystonia in children. This scale assesses dystonia in eight different body regions including the eyes, mouth, neck, trunk, and each of the four limbs. Each region is scored on a severity scale from 0 (no dystonia) to 4 (severe dystonia), allow for quantification of the overall dystonia as well as distribution of dystonic movements across the body. The BAD will be performed at each study timepoint as specified by SoA by the same trained and qualified administrator.
Measured: baseline to 12 and 24 months
Dystonia and gross motor function as measured by Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS)
The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) assesses the severity of dystonia as well as its impact on daily life. It consists of two main components: the Movement Scale, which scores dystonia in various body regions such as the eyes, mouth, neck, trunk, and limbs on a scale from 0 (no dystonia) to 4 (severe dystonia), and the Disability Scale, which evaluates the impact of dystonia on daily activities (e.g., feeding, hygiene, dressing, etc.).
Measured: baseline to 12 and 24 months
Dystonia and gross motor function as measured by Gross Motor Function Measure-88 (GMFM-88)
The Gross Motor Function Measure-88 (GMFM-88) evaluates changes in gross motor function in children with conditions that affect gross motor abilities. Motor function is assessed through 88 tasks across five dimensions: lying and rolling, sitting, crawling, and kneeling, standing, and walking, running, and jumping. Each item is scored on a four-point ordinal scale based on observed performance, providing quantification of gross motor function and the ability to track progress or regression over time.
Measured: baseline to 12 and 24 months
Dystonia and gross motor function as measured by Vineland Adaptive Behavior Scales
The Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), is a standardized, validated, and reliable assessment tool designed to measure the adaptive behavior of individuals from birth through adulthood. The Vineland-3 Motor Skills domain evaluates gross and fine motor abilities in individuals from birth to age 9, offering insights into coordination, balance, mobility, and dexterity. The raw scores are converted to standard scores and growth scale value scores, with higher scores indicating better adaptive functioning.
Measured: baseline to 12 and 24 months
Secondary outcomes (3)
Communication, behavioral and cognitive skills measured by The Vineland Adaptive Behavior Scales
The Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), is a standardized, validated, and reliable assessment tool designed to measure the adaptive behavior of individuals from birth through adulthood. The Vineland-3 Motor Skills domain evaluates gross and fine motor abilities in individuals from birth to age 9, offering insights into coordination, balance, mobility, and dexterity. The raw scores are converted to standard scores and growth scale value scores, with higher scores indicating better adaptive functioning.
Measured: baseline to 12 and 24 months
Communication, behavioral and cognitive skills measured bythe Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4)
The Bayley Scales of Infant and Toddler Development is a standardized, validated, and reliable assessment tool for evaluating developmental functioning in infants and toddlers. Its Motor Skills domain evaluates gross and fine motor abilities, including coordination, balance, and movement. The raw scores are converted to standard scores and growth scale value scores, with higher scores indicating better motor development.
Measured: baseline to 12 and 24 months
Quality of life as measured by PedsQL Family Impact Module
The Pediatric Quality of Life Inventory (PedsQL) Family Impact Module is a multidimensional instrument developed to assess the impact of chronic medical conditions on the health-related quality of life of parents and family functioning. This module measures parents' self-reported physical, emotional, social, and cognitive functioning, communication, and worry. The PedsQL Family Impact Module has shown reliability and validity in families with children with complex chronic health conditions.
Measured: baseline to 6-, 12-, 18-, and 24-months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Oct 2025
- Study start19 Sep 2025
- Primary completionSep 2027 (estimated)
- Study completionSep 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- More trials run by University of California, San DiegoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of California, San Diego
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Olivia Kim-McManus, University of California, San Diego
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07222371
- Sponsor's protocol ID
- 812067
- Acronym
- ASOTUBB4A
- Status last verified
- Sep 2025
- First submitted
- 27 Oct 2025
- Last updated
- 29 Oct 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-label, Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy
- ClinicalTrials.gov ID
- NCT07222371
- Acronym / sponsor ID
- ASOTUBB4A / 812067
- Conditions
- Genetic Disease, TUBB4A-Related Leukodystrophy
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 1 participants (actual)
- Lead sponsor
- University of California, San DiegoUniversity, hospital or other
- Study start
- 19 Sep 2025 (actual)
- Primary completion
- Sep 2027 (estimated)
- Study completion
- Sep 2027 (estimated)
- First posted
- 29 Oct 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This current study is aimed for the treatment of an individual participant with a form of TUBB4A-related leukodystrophy with hypomyelination.
Detailed description
The study is an investigational interventional drug created for the study subject's specific pathogenic genetic mutation.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Open label | Experimental | Drug: nL-TUBB4-001 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s).
- Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
- Clinical phenotype and neuroimaging consistent with a diagnosis of TUBB4A-related leukodystrophy
- Documented genetic mutation in TUBB4A
Key exclusion criteria (3 listed)
- Participant has any known contraindication to or unwillingness to undergo lumbar puncture
- Use of investigational medication within 5 half-lives of the drug at enrollment
- Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| nL-TUBB4-001Personalized antisense oligonucleotide | Drug | Open label |
Primary outcome
Dystonia and gross motor function as measured by Barry Albright Dystonia Scale (BAD)
Time frame: baseline to 12 and 24 months
The Barry Albright Dystonia Scale (BAD) is a clinical tool designed to evaluate the severity of dystonia in children. This scale assesses dystonia in eight different body regions including the eyes, mouth, neck, trunk, and each of the four limbs. Each region is scored on a severity scale from 0 (no dystonia) to 4 (severe dystonia), allow for quantification of the overall dystonia as well as distribution of dystonic movements across the body. The BAD will be performed at each study timepoint as specified by SoA by the same trained and qualified administrator.
Dystonia and gross motor function as measured by Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS)
Time frame: baseline to 12 and 24 months
The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) assesses the severity of dystonia as well as its impact on daily life. It consists of two main components: the Movement Scale, which scores dystonia in various body regions such as the eyes, mouth, neck, trunk, and limbs on a scale from 0 (no dystonia) to 4 (severe dystonia), and the Disability Scale, which evaluates the impact of dystonia on daily activities (e.g., feeding, hygiene, dressing, etc.).
Dystonia and gross motor function as measured by Gross Motor Function Measure-88 (GMFM-88)
Time frame: baseline to 12 and 24 months
The Gross Motor Function Measure-88 (GMFM-88) evaluates changes in gross motor function in children with conditions that affect gross motor abilities. Motor function is assessed through 88 tasks across five dimensions: lying and rolling, sitting, crawling, and kneeling, standing, and walking, running, and jumping. Each item is scored on a four-point ordinal scale based on observed performance, providing quantification of gross motor function and the ability to track progress or regression over time.
Dystonia and gross motor function as measured by Vineland Adaptive Behavior Scales
Time frame: baseline to 12 and 24 months
The Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), is a standardized, validated, and reliable assessment tool designed to measure the adaptive behavior of individuals from birth through adulthood. The Vineland-3 Motor Skills domain evaluates gross and fine motor abilities in individuals from birth to age 9, offering insights into coordination, balance, mobility, and dexterity. The raw scores are converted to standard scores and growth scale value scores, with higher scores indicating better adaptive functioning.
3 secondary outcomes
Communication, behavioral and cognitive skills measured by The Vineland Adaptive Behavior Scales
Time frame: baseline to 12 and 24 months
Communication, behavioral and cognitive skills measured bythe Bayley Scales of Infant and Toddler Development 4th Edition (BSID-4)
Time frame: baseline to 12 and 24 months
Quality of life as measured by PedsQL Family Impact Module
Time frame: baseline to 6-, 12-, 18-, and 24-months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing nL-TUBB4-001 in people with Genetic Disease and TUBB4A-Related Leukodystrophy, run by University of California, San Diego at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 29 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Dystonia and gross motor function as measured by Barry Albright Dystonia Scale (BAD) (time frame: baseline to 12 and 24 months). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Oct 2025.